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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Related Experiment Video

Updated: Jun 7, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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SV4GD: a comprehensive structural variation database specially for genetic diseases.

Lei Shi1, Sainan Zhang2, Ying Li1,3

  • 1National Health Commission Key Laboratory of Molecular Probes and Targeted Diagnosis and Therapy, Harbin Medical University, No.157 Baojian Road, Nangang District, Harbin 150081, China.

Nucleic Acids Research
|November 11, 2024
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Summary

Structural variations (SVs) are key to genomic diversity and human diseases. The SV4GD database offers a user-friendly resource for exploring these genetic variations and their links to diseases, aiding research and clinical applications.

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Area of Science:

  • Genomics
  • Medical Genetics
  • Bioinformatics

Background:

  • Structural variations (SVs) significantly contribute to genomic diversity and are implicated in numerous human genetic diseases.
  • Advancements in high-throughput sequencing have enhanced the accuracy of SV identification, improving clinical diagnosis and treatment strategies.
  • A need exists for a centralized, standardized resource to manage and access SV data relevant to genetic diseases.

Purpose of the Study:

  • To construct SV4GD, a manually curated database for structural variations associated with human genetic diseases.
  • To provide a comprehensive, user-friendly platform for browsing, searching, downloading, and comparing disease-relevant SVs.
  • To facilitate clinical and molecular genetics research by offering detailed information on SVs, genetic diseases, and patient clinical data.

Main Methods:

  • Manual curation of germline structural variants from scientific literature and patient data.
  • Compilation of records encompassing neoplastic and non-neoplastic genetic diseases.
  • Development of a web-based browser and search engine for data querying and retrieval.

Main Results:

  • The SV4GD database contains 10,305 records of germline structural variants.
  • Includes 2,695 disease-related SVs and 7,610 pending research SVs from 58 neoplastic and 232 non-neoplastic diseases.
  • Provides integrated information on SVs, human genetic diseases, and patient clinical details.

Conclusions:

  • SV4GD serves as a valuable, standardized data resource for structural variations in genetic diseases.
  • The database enhances accessibility for researchers and clinicians in molecular genetics.
  • Facilitates comparative analysis and discovery of novel disease-associated SVs.